Identifying DNA Variants in a Turkish Cohort with Inner Ear Anomalies.

To determine the genetic causes of sensorineural hearing loss (SNHL) associated with inner ear anomalies, 11 unrelated Turkish individuals diagnosed with SNHL and an inner ear anomaly using temporal bone computed tomography and inner ear magnetic resonance imaging underwent exome or whole genome sequencing to identify underlying genetic defects. None of the individuals was diagnosed with a recognized syndrome. Four of the 11 probands were homozygous for variants, , , , and .

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss.

While the importance of tight junctions in hearing is well established, the role of Claudin- 9 (CLDN9), a tight junction protein, in human hearing and deafness has not been explored. Through whole-genome sequencing, we identified a one base pair deletion (c.86delT) in CLDN9 in a consanguineous family from Turkey with autosomal recessive nonsyndromic hearing loss.

Three cases of Chronic Suppurative Otitis Media (CSOM) caused by Kerstersia gyiorum and a review of the literature.

New identification techniques such as gene sequencing and mass spectrometry have increased the incidence of novel agents such as Kerstersia gyiorum. As a new member of the Alcaligenaceae family, K. gyiorum was isolated from wounds, respiratory tract, urine specimens and most frequently from chronic suppurative otitis media (CSOM).

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.

The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.

Purpose: Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes. This study was designed to detect deafness-causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES).

Methods: After excluding mutations in the most common gene, GJB2, we performed WES in 160 multiplex families with ARNSD from Turkey, Iran, Mexico, Ecuador, and Puerto Rico to screen for mutations in all known ARNSD genes.

The need for mentoplasty following rhinoplasty.

Objective: Rhinoplasty is the most common facial plastic surgery procedure. The appearance of the face must be considered as a whole to achieve the best results, but assessment of the chin is often overlooked. The aim of this paper was to determine the need for mentoplasty after rhinoplasty.

Evidence for genotype-phenotype correlation for OTOF mutations.

Objectives: The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype-phenotype correlations.

Methods: Twenty-two affected members from three families with homozygous OTOF mutations were included. Nine subjects were evaluated audiologically with otoscopic examination, pure-tone audiometry, tympanometry with acoustic reflex testing, auditory brain stem responses, and otoacoustic emission tests.

The pathology of silent otitis media: a predecessor to tympanogenic meningitis in infants.

Objective: To determine the association of bacteria embedded within a fibrous matrix in the middle and inner ear in infants with tympanogenic meningitis.

Methods: Thirty-one cases with meningitis from the human temporal bone collection at the University of Minnesota were screened to select those with tympanogenic meningitis. Inclusion criteria for tympanogenic meningitis were acute meningitis with histopathological evidence of chronic otitis media, and no other source of infection.

An evaluation of preoperative computed tomography on patients with chronic otitis media.

This study aimed to compare the veracity of computed tomography findings on patients undergoing surgery for chronic otitis media (COM) with the surgical findings, and to determine to what extent the preoperative computerized tomography (CT) findings are useful to the surgeon. A series of 56 patients with COM undergoing preoperative CT scanning followed by surgical exploration of the middle ear and mastoid. Operative notes were recorded and data collected on the nature of soft tissue masses, the status of the ossicles, presence or absence of facial canal dehiscence and semicircular canal (SCC) dehiscence and the presence or absence of dural plate erosion, and sigmoid sinus thrombosis.

Association between type 1 diabetes mellitus and deposits in the semicircular canals.

Objective: To compare the prevalence of cupular and free-floating deposits in the semicircular canals between temporal bones of type 1 diabetes mellitus patients and normal controls.

Study Design: Case-control histopathologic human temporal bone study.

Setting: Otopathology laboratory in a tertiary academic medical center.

[A rare cause of dysphagia: Forestier's disease].

Forestier's disease is a rare rheumatologic disease characterized by ossification in various spinal and extraspinal ligaments especially the anterior longitudinal ligament. The hypertrophic bone proliferations seen in cervical involvement may be so extensive causing dysphagia. We present Forestier's disease as a rare cause of dysphagia with clinical and radiological findings.